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Background: Before some invasive procedures, such as injections, surgical incision or intravascular catheter insertions, alcoholic antiseptics (e.g., alcoholic povidone-iodine (PVP-I)) are widely used to prevent infection.Aim: This randomized, open-label study investigated the impact of mode of application (which includes both application technique and volume) on the antiseptic activity of 5% alcoholic PVP-I solution.Methods: Alcoholic PVP-I was administered to the backs of healthy adults using four modes of application: (A) concentric circle method, 3 mL; (B) concentric circle method, 10 mL; (C) back-and-forth friction method, 3 mL; (D) back-and-forth friction method, 10 mL.Primary Endpoint: antiseptic activity of alcoholic PVP-I, assessed via change from baseline in log10/cm2 colony-forming units (cfu) count for total aerobic and facultative anaerobic bacteria. Safety was monitored.Findings: A total of 113 healthy participants were screened; 32 were randomized. Alcoholic PVP-I showed significant antiseptic activity with all modes of application (P<0.001 for each), providing an overall mean decrease from baseline in cfu count of >3 log10/cm2 (P<0.001). Significantly greater efficacy was seen with back-and-forth friction (modes C and D) versus concentric circles (modes A and B): covariate adjusted change in log10/cm2 cfu count 0.22; 90% confidence intervals: 0.07, 0.37 (P=0.017). No safety issues were observed.Conclusions: Alcoholic PVP-I demonstrated high antiseptic activity for all modes of application. Greater efficacy was achieved with back-and-forth friction versus concentric circles, showing that application technique may influence antiseptic activity; these findings suggest that when comparing the efficacy of antiseptic substances (e.g., alcoholic PVP-I and alcoholic chlorhexidine), comparable application techniques should be used. [ABSTRACT FROM AUTHOR]

Coronary artery bypass grafting (CABG) is a common surgery for coronary artery disease in isolated or combined cardiac surgical procedures. Perioperative myocardial infarction (pMI) increases mortality in isolated on-pump CABG. However, the incidence and prognosis of pMI are contingent upon the specific universal definition (UD) of myocardial infarction employed, with no available data currently reported for combined procedures. The study aimed to assess the association between pMI and the 5-year mortality in patients undergoing isolated or combined on-pump CABG. We included in this retrospective study adult patients undergoing elective or urgent on-pump isolated or combined CABG in the Amiens University Hospital during the 2013–2017 period. pMI was defined according to the 4th UD of myocardial infarction. The primary outcome was 5-year mortality, defined as all-cause death after cardiac surgery. Multivariable regression was performed to assess the association between pMI and 5-year mortality. Inverse probability weighting (IPW) derived from propensity scores was used to reduce imbalances in baseline and intra operative characteristics. From January 2013 to January 2017, 712 patients were included and assessed. 112 (16%) patients developed pMI. The 5-year mortality rate was significantly higher in the pMI group (respectively for pMI, 34% vs11%; P < 0.001). Active smoking (P = 0.001) and a cardiopulmonary bypass time > 180 min (P = 0.01) were associated with pMI. In a multivariable model, pMI was an independent predictor factor of 5-year mortality (OR = 2.48, 95% confidence interval (95%CI) = [1.60–3.87], P < 0.001). After IPW (Graph1), pMI remained significantly associated with 5-year mortality (OR = 1.15; 95%CI [1.13–1.16]; P < 0.001). pMI was a frequent complication of isolated or combined CABG procedures and was an independent factor of 5 years of mortality (Figure 1). [ABSTRACT FROM AUTHOR]

Objective: To evauluate the relationship between propionic acidemia (PA) and cardiomyopathy.Study Design: We retrospectively compared clinical and metabolic results of patients with PA with and without cardiomyopathy.Results: Of 26 patients with PA who survived the first year of age, a dilated cardiomyopathy developed in 6 (group 1) at a median age of 7 years (range, 5-11 years). They were compared with 14 patients without cardiomyopathy for whom data were available (group 2). Their median age at the time of the study was 11 years (range, 3-21 years). PA was diagnosed in the neonatal period in 5 of 6 patients in group 1 and 11 of 14 patients in group 2. All patients received similar medical treatment. Two patients in group 1 died of cardiac arrest. In 2 patients, the cardiomyopathy was reversed during the year after orthotopic liver transplantation (OLT). In 2 other patients, OLT was contraindicated because of severe heart disease. The number of metabolic distress episodes was similar in both groups. Excretion of propionate metabolites in urine did not correlate with the occurrence of cardiomyopathy.Conclusion: Dilated cardiomyopathy, a frequent complication of PA, develops independent of any specific metabolic profile and is reversible after OLT. [ABSTRACT FROM AUTHOR]

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Summary: Observation: We report on the case of a 3-year-old child from La Réunion island, who presented with hypoglycemic hypoketotic coma secondary to a primary Epstein-Barr virus (EBV) infection. The discovery of the G1528C homozygote mutation provided the diagnosis of long-chain-3-hydroxyacyl-CoA-dehydrogenase (LCHAD); an adapted dietary plan with prevention of fasting and L-carnitine supplementation was initiated. After 2 years, a pigmentary retinopathy appeared and muscle weakness increased. Comments: Isolated LCHAD deficiency is an autosomal recessive disorder of fatty acid metabolism. Prevalence is about 1–9/100,000 and diagnosis is often made before the age of 2 years. The late age of revelation in our case is related to a spontaneous diet without animal fats (disgust for meat, diet based on white rice and skimmed milk) and nighttime breastfeeding until the age of 3 years. In an affected fetus, heterozygous mothers are susceptible to developing a hemolysis, elevated liver enzymes, low platelets (HELLP) syndrome or an acute fatty liver pregnancy (AFLP) syndrome during the 3rd trimester of pregnancy, which motivated us to set up a systematic neonatal screening program and a specific monitoring of these newborns. [ABSTRACT FROM AUTHOR]

Résumé Introduction L’hydroxychloroquine (HCQ) est souvent utilisé dans le traitement de pathologies inflammatoires systémiques. Les complications cardiaques des antipaludéens de synthèses sont peu fréquentes et surtout liées à une exposition chronique. Dans ce cas, elles sont liées à l’accumulation de dépôts granuleux dans le cytoplasme, conséquence de la dysfonction lysosomale. Observation Nous rapportons un cas de cardiotoxicité particulièrement précoce et réversible, probablement lié à l’effet quinidine like de l’HCQ, chez une patiente présentant une endocardite de Whipple, et exposé depuis 10 jours au traitement. Conclusion Nous discutons à travers cette observation, les mécanismes de toxicité cardiaque des antipaludéens de synthèses et leurs manifestations cliniques. Introduction Hydroxychloroquine (HCQ) is most frequently used in the treatment of systemic inflammatory diseases. Cardiac complications of anti-malarial drugs are uncommon, and most of the time are the result of a long-term exposition. In this case, cardiotoxicity is the consequence of the lysosomal dysfunction and the result of intracytoplasmic granular material inclusions. Case report We report a 77-year-old woman who presented a very early and reversible cardiotoxicity, probably related to the quinidine like effect of the HCQ, 10 days after initiation of therapy for Whipple endocarditis. Conclusion We discuss the different mechanisms of cardiotoxicity of anti-malarial drugs and their clinical manifestations. [ABSTRACT FROM AUTHOR]

Haematological symptoms can be helpful for the diagnosis of metabolic diseases. A megaloblastic anemia orientates to folate and cobalamine anomalies when associated with homocystinemia and decreased plasma methionine levels, or to congenital oroticuria (hypochromia), Pearson syndrome (sideroblasts and vacuolisation of precursors) and thiamine transporter abnormality (sideroblasts) in the absence of homocystinuria. An hemolytic anemia orientates to anomalies of anaerobic glycolysis, heme synthesis, or iron metabolism, and Wilson disease. A pancytopenia orientates to organic aciduria, lysinuric protein intolerance, mevalonic aciduria and lysosomal storage diseases (Gaucher, Niemann Pick, Wolman) when hepatosplenomegaly is present. Uremic hemolytic syndrome and hemophagocytic lymphohistiocytosis respectively orientate to B12 anomalies, lysinuric protein intolerance, lysosomal storage diseases and organic aciduria. [ABSTRACT FROM AUTHOR]

Aortobronchial fistula presenting as massive haemoptysis is a rapidly fatal process if not promptly diagnosed and repaired. It''s an unusual complication of thoracic aneurysm. We report the case of a 61-year-old woman with rupture of a thoracic aortic infectious aneurysm secondary to an Escherichia coli infection. Aortobronchial fistula diagnosis should be considered in patients who have minor or major haemoptysis and correct diagnostic procedures shoud be performed early. An aggressive surgical approach is often necessary. [Copyright &y& Elsevier]

Les mucopolysaccharidoses sont des maladies de surcharge lysosomales, secondaires à l'accumulation de mucopolysaccharides. La mucopolysaccharidose de type 1 est la plus fréquente et touche entre 0,69 et 1,66 nouveau-né sur 100 000. Les manifestations cliniques des mucopolysaccharidoses sont de sévérités variables avec des formes létales in utero et des formes atténuées diagnostiquées à l'âge adulte. Les symptômes des plus fréquents sont une petite taille, une dysmorphie faciale, l'atteinte rhumatologique qui peut mimer un rhumatisme inflammatoire chronique, les atteintes osseuses axiales et périphériques, l'hépatosplénomégalie, et un canal carpien précoce. En fonction du type de mucopolysaccharidose, une atteinte cornéenne, cardiaque ou du système nerveux central est possible. Le dépistage repose sur l'analyse des glycosaminoglycanes urinaires, qui oriente vers le type de mucopolysaccharidose. Le dosage de l'enzyme déficiente et la recherche de mutation confirment le diagnostic. La reconnaissance des mucopolysaccharidoses est importante pour la prise en charge du patient et le dépistage familial. De plus, un traitement spécifique par enzymothérapie substitutive existe pour certains types de mucopolysaccharidoses. Les mucopolysaccharidoses étant des maladies systémiques, le médecin interniste a un rôle essentiel dans leur reconnaissance et diagnostic. Mucopolysaccharidosis are lysosomal storage diseases, secondary to the accumulation of mucopolysaccharides. Type 1 mucopolysaccharidosis is the most common form and affects between 0.69 and 1.66 newborns per 100,000. The severity of mucopolysaccharidosis is variable with lethal forms in utero and attenuated forms diagnosed in adults. The most common symptoms are short stature, facial dysmorphism, chronic articular pains that can mimic chronic inflammatory rheumatism, axial and peripheral bone involvement, hepatosplenomegaly and an early carpal tunnel. Depending on the type of mucopolysaccharidosis, corneal, cerebral or cardiac involvements are possible. Screening is based on the analysis of urinary glycosaminoglycans. The deficient enzyme assay and the gene analysis confirm the diagnosis. Mucopolysaccharidosis recognition is important for patient management and family screening. In addition, specific enzyme replacement therapy exists for certain types of mucopolysaccharidosis. Role of clinician is important to evoke and diagnose mucopolysaccharidosis. [ABSTRACT FROM AUTHOR]

Summary: 3-Hydroxy-3-methylglutaric aciduria is a rare autosomal recessive genetic disorder due to a deficiency of the 3-hydroxy-3-methylglutarylCoA lyase (HMG-CoA lyase), a mitochondrial enzyme involved in ketogenesis and in the final step of l-leucine catabolism. HMG-CoA lyase deficiency can lead, in particular circumstances, such as fever, prolonged fasting or digestive disorders, to brutal and severe hypoglycemia with metabolic acidosis and sometimes fatal coma. We report on a new case of 3-hydroxy-3-methylglutaric aciduria particular by its late onset in a 3-year-old patient. Molecular investigation identified two new sequence modifications in the HMGCL gene: c.494G>A (p.Arg165Gln) and c.820G>A (p.Gly274Arg). We remind about this case report that the therapeutical is mainly preventive and allows a very good prognosis for this disease. Long-term treatment consists in limited fasting time, continuous low protein diet and l-carnitine supplementation. Preventive measures are essential: prevention of fasting and emergency treatment during intercurrent infections. [Copyright &y& Elsevier]

Abstract: Congenital hyperinsulinism (HI) is the most important cause of hypoglycaemia in early infancy. The inappropriate oversecretion of insulin is responsible for profound hypoglycaemias requiring aggressive treatment to prevent severe and irreversible brain damage. Several classifications of HI can be attempted, based on: 1) the onset of hypoglycemia in the neonatal period or later in infancy; 2) the histological lesion: focal or diffuse; 3) the genetic transmission: sporadic, recessive, or less frequently dominant. The most common underlying mechanism of HI is dysfunction of the pancreatic ATP-sensitive potassium channel (K+ ATP). The 2 subunits of the K+ ATP channel are encoded by either the sulfonylurea receptor gene (SUR1 or ABCC8) or the inward-rectifying potassium channel gene (KIR6.2. or KCNJ11), both located in the 11p15.1 region. Focal CHI has been shown to result from a paternally inherited mutation on the SUR1 or KIR6.2 gene and loss of the maternal 11p15 allele restricted to the pancreatic lesion. Diffuse HI, frequently due to mutations of the SUR1 or KIR6.2 genes of autosomal recessive inheritance is genetically heterogeneous. The distinction between the focal and the diffuse HI is very important, because the treatments are different. To distinguish between focal and diffuse HI, transhepatic catheterisation with pancreatic venous sampling was the reference technique, but will likely be replaced by [18F] Fluoro-L-Dopa PET scan, which is easier to perform. In absence of response to the medical treatment (diazoxide) a limited pancreatectomy permits to cure focal HI, while a diffuse HI requires a subtotal pancreatectomy with high risk of subsequent diabetes mellitus. [Copyright &y& Elsevier]

Abstract: In children more than 8 years old, hyperinsulinism is the most common cause of hypoglycaemia. Case report. – We report the case of an 11-year-old girl who presented recurrent hypoglycaemia with endogenous hyperinsulinism (high insulin and C-peptide concentrations). The morphological investigations didn''t find insulinoma. Finally the questioning identifies the voluntary intoxication with hypoglycaemiant agent. At a later date, the sulfonylurea dosage during an hypoglycaemic episode was positive. Conclusion. – The sulfonylurea drugs can mimic an endogenous hyperinsulinism and mislead the diagnostic to an insulinoma suspicion and lead to a surgical exploration. A sulfonylurea dosage should be done before planning out surgery. [Copyright &y& Elsevier]